Canonical Allele Identifier: CA7738929
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 759198
dbSNP Id: rs747406569

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90794186T>C , CM000677.2:g.90794186T>C GRCh38
NC_000015.9:g.91337416T>C , CM000677.1:g.91337416T>C GRCh37
NC_000015.8:g.89138420T>C NCBI36
NG_007272.1:g.81815T>C , LRG_20:g.81815T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3039T>C MANE Select ENSP00000347232.3:p.His1013=
ENST00000560559.2:n.1612T>C
ENST00000648453.1:c.3039T>C ENSP00000497646.1:p.His1013=
ENST00000680772.1:c.3039T>C ENSP00000506117.1:p.His1013=
ENST00000681142.1:c.3039T>C ENSP00000506682.1:p.His1013=
ENST00000355112.7:c.3039T>C ENSP00000347232.3:p.His1013=
ENST00000558825.5:n.386T>C
ENST00000559724.5:c.*1963T>C ENSP00000453359.1:n.*1963T>C
ENST00000560136.5:n.1065T>C
ENST00000560509.5:c.3039T>C ENSP00000454158.1:p.His1013=
ENST00000560559.1:n.576T>C
NM_000057.3:c.3039T>C NP_000048.1:p.His1013=
NM_001287246.1:c.3039T>C NP_001274175.1:p.His1013=
NM_001287247.1:c.3039T>C NP_001274176.1:p.His1013=
NM_001287248.1:c.1914T>C NP_001274177.1:p.His638=
XM_006720632.2:c.1077T>C XP_006720695.1:p.His359=
XM_011521881.1:c.1725T>C XP_011520183.1:p.His575=
XM_011521881.2:c.1725T>C XP_011520183.1:p.His575=
NM_000057.4:c.3039T>C MANE Select NP_000048.1:p.His1013=
NM_001287246.2:c.3039T>C NP_001274175.1:p.His1013=
NM_001287247.2:c.3039T>C NP_001274176.1:p.His1013=
NM_001287248.2:c.1914T>C NP_001274177.1:p.His638=